Zhang Bi-He, Sun Jia-Lin, Zhang Si-Di, Shi Bing, Jia Zhong-Lin
State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & Department of Cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan, China.
Department of Oral and Maxillofacial Surgery, School of Stomatology, Peking University, Beijing, China.
Cleft Palate Craniofac J. 2025 Apr 13:10556656251333909. doi: 10.1177/10556656251333909.
ObjectivesNonsyndromic cleft lip with or without palate (NSCL/P) is one of the most prevalent congenital orofacial defects. It arises from a combination of genetic and environmental factors. This study aims to identify new risk loci around the musculoaponeurotic fibrosarcoma oncogene family, protein B () gene in NSCL/P patients from the Western Han Chinese population.DesignA targeted region sequencing approach was employed to examine the gene in 159 NSCL/P cases. We conducted both single-variant association and gene-based burden analyses.SettingThe study was conducted in a stomatological hospital.Patients, participantsOne hundred and fifty-nine NSCL/P cases were analyzed.InterventionsBlood samples were collected.Main outcome measuresTo explore the association analysis between variants at and NSCL/P in Western Han Chinese population.ResultsWe identified a cluster of significant common variants near the 3' end of . Notably, rs6029223 showed significantly associated with NSCL/P (= 3.82E-09, odds ration [OR]=0.29, 95% confidence interval [CI]: 0.18-0.46), nonsyndromic cleft lip and palate (NSCLP) (= 5.31E-08, OR=0.25, 95% CI: 0.14-0.44) and nonsyndromic cleft lip only (NSCLO) (= 1.3E-04, OR=0.34, 95%CI: 0.19-0.62). In Addition, rs79836852 and rs200392238 were significantly associated with both NSCL/P and NSCLP.ConclusionsOur study revealed that single nucleotide polymorphisms near the 3' end of the gene are risk factors for NSCL/P and NSCLP in the Western Han Chinese population. Our findings reinforce the notion that is a susceptibility gene for NSCL/P.
目的
非综合征性唇裂伴或不伴腭裂（NSCL/P）是最常见的先天性口腔颌面部缺陷之一。它由遗传和环境因素共同导致。本研究旨在在中国西汉人群的NSCL/P患者中，确定肌肉腱膜纤维肉瘤癌基因家族蛋白B（）基因周围的新风险位点。
设计
采用靶向区域测序方法检测159例NSCL/P病例中的基因。我们进行了单变异关联分析和基于基因的负荷分析。
地点
该研究在一家口腔医院进行。
患者、参与者
分析了159例NSCL/P病例。
干预措施
采集血样。
主要观察指标
探讨中国西汉人群中基因变异与NSCL/P之间的关联分析。
结果
我们在基因3'端附近发现了一组显著的常见变异。值得注意的是，rs6029223与NSCL/P显著相关（=3.82E-09，优势比[OR]=0.29，95%置信区间[CI]：0.18-0.46），与非综合征性唇腭裂（NSCLP）显著相关（=5.31E-08，OR=0.25，95%CI：0.14-0.44），与仅非综合征性唇裂（NSCLO）显著相关（=1.3E-04，OR=0.34，95%CI：0.19-0.62）。此外，rs79836852和rs200392238与NSCL/P和NSCLP均显著相关。
结论
我们的研究表明，中国西汉人群中基因3'端附近的单核苷酸多态性是NSCL/P和NSCLP的危险因素。我们的发现强化了基因是NSCL/P易感基因的观念。
